Hyperferritinemia in Hereditary Spherocytosis: A Diagnostic Challenge

Abstract

Aims: Hereditary spherocytosis is an autosomal dominant disorder characterized by increased red blood cell osmotic fragility and impaired deformability. Hereditary hemochromatosis is an autosomal recessive disorder of iron metabolism which results in damage to multiple organs. Presentation of Case: This case describes a 42 year old Chinese male who presents with jaundice. He denies any fever, vomiting, anorexia or loss of weight. Urine and stool colour were normal. He had no history of blood transfusions or prolonged iron therapy. In addition, he had a past history of open cholecystectomy for recurrent acute cholecystitis. He had a family history of jaundice in which his father underwent a cholecystectomy and had multiple blood transfusions. On physical examination, he was jaundiced. His spleen was enlarged 6 cms from the left costal margin. The peripheral blood film showed mild anemia with increased reticulocyte response and spherocytosis suggestive of hereditary spherocytosis. Direct Coombs test was negative and there was an increase in red blood cell osmotic fragility. Iron studies revealed hyperferritinemia. Genetic testing showed homozygosity for the (hemochromatosis gene) HFE mutation C282Y. Ultrasonography of the abdomen revealed splenomegaly with no evidence of liver cirrhosis. He underwent regular venesections and his serum ferritin improved subsequently. Conclusion: Iron overload in a patient with non transfusional hereditary spherocytosis should prompt screening for HFE mutations and warrant early screening of family members to prevent serious complications.